{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA15527432",
  "communityStandardTitle": [
    "NM_032549.4(IMMP2L):c.408+59428G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.110467221C>T?assembly=hg19",
        "id": "chr7:g.110467221C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.110827165C>T?assembly=hg38",
        "id": "chr7:g.110827165C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10279573",
        "rs": 10279573
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-110467221-C-T?dataset=gnomad_r2_1",
        "id": "7-110467221-C-T",
        "variant": "7:110467221 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-110827165-C-T?dataset=gnomad_r3",
        "id": "7-110827165-C-T",
        "variant": "7:110827165 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-110827165-C-T?dataset=gnomad_r4",
        "id": "7-110827165-C-T",
        "variant": "7:110827165 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 110827165,
          "referenceAllele": "C",
          "start": 110827164
        }
      ],
      "hgvs": [
        "NC_000007.14:g.110827165C>T",
        "CM000669.2:g.110827165C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 110467221,
          "referenceAllele": "C",
          "start": 110467220
        }
      ],
      "hgvs": [
        "NC_000007.13:g.110467221C>T",
        "CM000669.1:g.110467221C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 110254457,
          "referenceAllele": "C",
          "start": 110254456
        }
      ],
      "hgvs": [
        "NC_000007.12:g.110254457C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740353,
          "referenceAllele": "G",
          "start": 740352
        }
      ],
      "hgvs": [
        "NG_030016.1:g.740353G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004843"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740353,
          "referenceAllele": "G",
          "start": 740352
        }
      ],
      "hgvs": [
        "NG_030016.2:g.740353G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673833"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1052,
          "endIntronDirection": "+",
          "endIntronOffset": 59428,
          "referenceAllele": "G",
          "start": 1052,
          "startIntronDirection": "+",
          "startIntronOffset": 59427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "ENST00000405709.7:c.408+59428G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384966.2:n.408+59428G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405709.7:c.408+59428G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032549.4:c.408+59428G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384966.2:n.408+59428G>A"
          },
          "RefSeq": {
            "hgvs": "NP_115938.1:n.408+59428G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 537,
          "endIntronDirection": "+",
          "endIntronOffset": 59428,
          "referenceAllele": "G",
          "start": 537,
          "startIntronDirection": "+",
          "startIntronOffset": 59427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "ENST00000331762.7:c.408+59428G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329553.3:n.408+59428G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 851,
          "endIntronDirection": "+",
          "endIntronOffset": 59428,
          "referenceAllele": "G",
          "start": 851,
          "startIntronDirection": "+",
          "startIntronOffset": 59427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "ENST00000405709.6:c.408+59428G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384966.2:n.408+59428G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 465,
          "endIntronDirection": "+",
          "endIntronOffset": 59428,
          "referenceAllele": "G",
          "start": 465,
          "startIntronDirection": "+",
          "startIntronOffset": 59427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "ENST00000450877.5:c.354+59428G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402824.1:n.354+59428G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300909"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 527,
          "endIntronDirection": "+",
          "endIntronOffset": 59428,
          "referenceAllele": "G",
          "start": 527,
          "startIntronDirection": "+",
          "startIntronOffset": 59427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "ENST00000452895.5:c.408+59428G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399353.1:n.408+59428G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 66,
          "endIntronDirection": "+",
          "endIntronOffset": 136335,
          "referenceAllele": "G",
          "start": 66,
          "startIntronDirection": "+",
          "startIntronOffset": 136334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "ENST00000487733.5:n.66+136335G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 246,
          "endIntronDirection": "+",
          "endIntronOffset": 136335,
          "referenceAllele": "G",
          "start": 246,
          "startIntronDirection": "+",
          "startIntronOffset": 136334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "ENST00000489381.1:n.246+136335G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 537,
          "endIntronDirection": "+",
          "endIntronOffset": 59428,
          "referenceAllele": "G",
          "start": 537,
          "startIntronDirection": "+",
          "startIntronOffset": 59427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "NM_001244606.1:c.408+59428G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001231535.1:n.408+59428G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 851,
          "endIntronDirection": "+",
          "endIntronOffset": 59428,
          "referenceAllele": "G",
          "start": 851,
          "startIntronDirection": "+",
          "startIntronOffset": 59427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "NM_032549.3:c.408+59428G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115938.1:n.408+59428G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "endIntronDirection": "+",
          "endIntronOffset": 59428,
          "referenceAllele": "G",
          "start": 619,
          "startIntronDirection": "+",
          "startIntronOffset": 59427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "XM_005250630.3:c.408+59428G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250687.1:n.408+59428G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059239"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 890,
          "endIntronDirection": "+",
          "endIntronOffset": 59428,
          "referenceAllele": "G",
          "start": 890,
          "startIntronDirection": "+",
          "startIntronOffset": 59427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "XM_011516605.1:c.492+59428G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514907.1:n.492+59428G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 895,
          "endIntronDirection": "+",
          "endIntronOffset": 59428,
          "referenceAllele": "G",
          "start": 895,
          "startIntronDirection": "+",
          "startIntronOffset": 59427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "XM_011516608.1:c.492+59428G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514910.1:n.492+59428G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083808"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 793,
          "endIntronDirection": "+",
          "endIntronOffset": 136335,
          "referenceAllele": "G",
          "start": 793,
          "startIntronDirection": "+",
          "startIntronOffset": 136334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "XM_011516609.1:c.389+136335G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514911.1:n.389+136335G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083809"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 703,
          "endIntronDirection": "+",
          "endIntronOffset": 136335,
          "referenceAllele": "G",
          "start": 703,
          "startIntronDirection": "+",
          "startIntronOffset": 136334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "XM_011516613.1:c.305+136335G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514915.1:n.305+136335G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 605,
          "endIntronDirection": "+",
          "endIntronOffset": 59428,
          "referenceAllele": "G",
          "start": 605,
          "startIntronDirection": "+",
          "startIntronOffset": 59427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "NM_001350959.1:c.408+59428G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337888.1:n.408+59428G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 515,
          "endIntronDirection": "+",
          "endIntronOffset": 59428,
          "referenceAllele": "G",
          "start": 515,
          "startIntronDirection": "+",
          "startIntronOffset": 59427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "NM_001350960.1:c.408+59428G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337889.1:n.408+59428G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 621,
          "endIntronDirection": "+",
          "endIntronOffset": 59428,
          "referenceAllele": "G",
          "start": 621,
          "startIntronDirection": "+",
          "startIntronOffset": 59427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "NM_001350961.1:c.492+59428G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337890.1:n.492+59428G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 434,
          "endIntronDirection": "+",
          "endIntronOffset": 136335,
          "referenceAllele": "G",
          "start": 434,
          "startIntronDirection": "+",
          "startIntronOffset": 136334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "NM_001350963.1:c.305+136335G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337892.1:n.305+136335G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519797"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 897,
          "endIntronDirection": "+",
          "endIntronOffset": 59428,
          "referenceAllele": "G",
          "start": 897,
          "startIntronDirection": "+",
          "startIntronOffset": 59427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "XM_011516608.2:c.492+59428G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514910.1:n.492+59428G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544229"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 794,
          "endIntronDirection": "+",
          "endIntronOffset": 136335,
          "referenceAllele": "G",
          "start": 794,
          "startIntronDirection": "+",
          "startIntronOffset": 136334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "XM_011516609.2:c.389+136335G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514911.1:n.389+136335G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544230"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 897,
          "endIntronDirection": "+",
          "endIntronOffset": 59428,
          "referenceAllele": "G",
          "start": 897,
          "startIntronDirection": "+",
          "startIntronOffset": 59427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "XM_017012704.1:c.492+59428G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868193.1:n.492+59428G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 715,
          "endIntronDirection": "+",
          "endIntronOffset": 59428,
          "referenceAllele": "G",
          "start": 715,
          "startIntronDirection": "+",
          "startIntronOffset": 59427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "XM_024446956.1:c.285+59428G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302724.1:n.285+59428G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 512,
          "endIntronDirection": "+",
          "endIntronOffset": 59428,
          "referenceAllele": "G",
          "start": 512,
          "startIntronDirection": "+",
          "startIntronOffset": 59427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "NM_001244606.2:c.408+59428G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001231535.1:n.408+59428G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 580,
          "endIntronDirection": "+",
          "endIntronOffset": 59428,
          "referenceAllele": "G",
          "start": 580,
          "startIntronDirection": "+",
          "startIntronOffset": 59427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "NM_001350959.2:c.408+59428G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337888.1:n.408+59428G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688590"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 716,
          "endIntronDirection": "+",
          "endIntronOffset": 59428,
          "referenceAllele": "G",
          "start": 716,
          "startIntronDirection": "+",
          "startIntronOffset": 59427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "NM_001350960.2:c.408+59428G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337889.1:n.408+59428G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 596,
          "endIntronDirection": "+",
          "endIntronOffset": 59428,
          "referenceAllele": "G",
          "start": 596,
          "startIntronDirection": "+",
          "startIntronOffset": 59427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "NM_001350961.2:c.492+59428G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337890.1:n.492+59428G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 409,
          "endIntronDirection": "+",
          "endIntronOffset": 136335,
          "referenceAllele": "G",
          "start": 409,
          "startIntronDirection": "+",
          "startIntronOffset": 136334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "NM_001350963.2:c.305+136335G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337892.1:n.305+136335G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688594"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1052,
          "endIntronDirection": "+",
          "endIntronOffset": 59428,
          "referenceAllele": "G",
          "start": 1052,
          "startIntronDirection": "+",
          "startIntronOffset": 59427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014598",
      "geneNCBI_id": 83943,
      "geneSymbol": "IMMP2L",
      "hgvs": [
        "NM_032549.4:c.408+59428G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115938.1:n.408+59428G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405709.7:c.408+59428G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032549.4:c.408+59428G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384966.2:n.408+59428G>A"
          },
          "RefSeq": {
            "hgvs": "NP_115938.1:n.408+59428G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}